Canonical Allele Identifier: CA356664938

Gene: LIAS

Linked Data

• MyVariant Identifiers: chr4:g.39469187C>G (hg19) ; chr4:g.39467567C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39467567C>G , CM000666.2:g.39467567C>G	GRCh38
NC_000004.11:g.39469187C>G , CM000666.1:g.39469187C>G	GRCh37
NC_000004.10:g.39145582C>G	NCBI36
NG_032111.1:g.13523C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261434.8:c.349C>G	ENSP00000261434.4:p.Leu117Val
ENST00000340169.7:c.658C>G	ENSP00000340676.2:p.Leu220Val
ENST00000381846.2:c.608+2225C>G	ENSP00000371270.1:n.608+2225C>G
ENST00000513731.6:c.268C>G	ENSP00000425580.1:p.Leu90Val
ENST00000638422.1:c.658C>G	ENSP00000491001.1:p.Leu220Val
ENST00000638430.1:c.355C>G
ENST00000638451.1:c.300-2452C>G	ENSP00000491681.1:n.300-2452C>G
ENST00000638816.1:c.372C>G	ENSP00000492482.1:n.372C>G
ENST00000639422.1:c.*14C>G	ENSP00000491899.1:n.*14C>G
ENST00000640349.1:c.544C>G	ENSP00000491477.1:p.Leu182Val
ENST00000640381.1:n.718C>G
ENST00000640672.1:c.368+2225C>G	ENSP00000492203.1:n.368+2225C>G
ENST00000640689.1:c.*261C>G	ENSP00000491591.1:n.*261C>G
ENST00000640888.2:c.658C>G MANE Select	ENSP00000492260.1:p.Leu220Val
ENST00000261434.7:c.658C>G	ENSP00000261434.3:p.Leu220Val
ENST00000340169.6:c.658C>G	ENSP00000340676.2:p.Leu220Val
ENST00000381846.1:c.608+2225C>G	ENSP00000371270.1:n.608+2225C>G
ENST00000513731.5:c.268C>G	ENSP00000425580.1:p.Leu90Val
NM_001278590.1:c.608+2225C>G	NP_001265519.1:n.608+2225C>G
NM_006859.3:c.658C>G	NP_006850.2:p.Leu220Val
NM_194451.2:c.658C>G	NP_919433.1:p.Leu220Val
XM_006713990.2:c.300-2452C>G	XP_006714053.1:n.300-2452C>G
NM_001363700.1:c.349C>G	NP_001350629.1:p.Leu117Val
XM_006713990.3:c.300-2452C>G	XP_006714053.1:n.300-2452C>G
XM_017007665.2:c.608+2225C>G	XP_016863154.1:n.608+2225C>G
XR_001741096.2:n.746C>G
NM_001278590.2:c.608+2225C>G	NP_001265519.1:n.608+2225C>G
NM_001363700.2:c.349C>G	NP_001350629.1:p.Leu117Val
NM_006859.4:c.658C>G MANE Select	NP_006850.2:p.Leu220Val
NM_194451.3:c.658C>G	NP_919433.1:p.Leu220Val